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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPV6

Variant:p.S326_G327delFs

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TRPV6

NM_018646.6:p.S326_G327delFs

hg38:chr7:142875807 CCT>C

Associated Papers

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Suzuki Y et al.

American Journal of Human Genetics, 2018

29861107 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."